PubMed:23029558 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/23029558","sourcedb":"PubMed","sourceid":"23029558","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/23029558","text":"Myocilin polymorphisms and primary open-angle glaucoma: a systematic review and meta-analysis.\nBACKGROUND: Glaucoma is the leading cause of irreversible blindness in the world. Recent evidence indicates a role for genetic susceptibility to primary open-angle glaucoma (POAG). The relation between myocilin polymorphisms and POAG susceptibility has been studied in different populations.\nMETHODS: A meta-analysis of 32 published genetic association case-control studies, which examined the relation between POAG and the R46X, R76K, Y347Y, T353I, and Q368X polymorphisms of the myocilin gene, was carried out.\nRESULTS: In meta-analysis, significant associations were observed between POAG risk and two myocilin polymorphisms with summarized odds ratio of 4.68 (95%CI, 2.02-10.85) for Q368X and 2.17 (95% CI, 1.32-3.57) for T353I. Both Q368X and T353I were significantly associated with high-tension glaucoma, with summarized odds ratio of 4.26 (1.69, 10.73) and 2.26 (1.37-3.72). In Westerners, significant association was observed for Q368X mutation (odds ratio, 5.17; 95% CI, 2.16-12.40). However, in Asians it was for T353I (odds ratio, 2.17; 95% CI, 1.32-3.57).\nCONCLUSIONS: There is strong evidence that myocilin polymorphisms are associated with POAG susceptibility, and the prevalence of myocilin mutations might be ethnicity-dependent in Caucasians for Q368X and in Asians for T353I.","tracks":[{"project":"Allie","denotations":[{"id":"SS1_23029558_3_0","span":{"begin":240,"end":267},"obj":"expanded"},{"id":"SS2_23029558_3_0","span":{"begin":269,"end":273},"obj":"abbr"}],"relations":[{"id":"AE1_23029558_3_0","pred":"abbreviatedTo","subj":"SS1_23029558_3_0","obj":"SS2_23029558_3_0"}],"attributes":[{"subj":"SS1_23029558_3_0","pred":"source","obj":"Allie"},{"subj":"SS2_23029558_3_0","pred":"source","obj":"Allie"}]},{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":107,"end":115},"obj":"HP_0000501"},{"id":"T2","span":{"begin":153,"end":162},"obj":"HP_0000618"},{"id":"T3","span":{"begin":222,"end":267},"obj":"HP_0012108"},{"id":"T4","span":{"begin":240,"end":267},"obj":"HP_0012108"},{"id":"T5","span":{"begin":259,"end":267},"obj":"HP_0000501"}],"attributes":[{"subj":"T1","pred":"source","obj":"PubmedHPO"},{"subj":"T2","pred":"source","obj":"PubmedHPO"},{"subj":"T3","pred":"source","obj":"PubmedHPO"},{"subj":"T4","pred":"source","obj":"PubmedHPO"},{"subj":"T5","pred":"source","obj":"PubmedHPO"}]},{"project":"DisGeNET5_variant_disease","denotations":[{"id":"23029558-4#123#127#geners74315337","span":{"begin":519,"end":523},"obj":"geners74315337"},{"id":"23029558-4#110#114#diseaseC0339573","span":{"begin":506,"end":510},"obj":"diseaseC0339573"},{"id":"23029558-6#5#10#geners74315329","span":{"begin":833,"end":838},"obj":"geners74315329"},{"id":"23029558-6#15#20#geners137853277","span":{"begin":843,"end":848},"obj":"geners137853277"},{"id":"23029558-6#69#77#diseaseC0017601","span":{"begin":897,"end":905},"obj":"diseaseC0017601"},{"id":"23029558-9#206#211#geners137853277","span":{"begin":1383,"end":1388},"obj":"geners137853277"},{"id":"23029558-9#182#187#geners74315329","span":{"begin":1359,"end":1364},"obj":"geners74315329"},{"id":"23029558-9#73#77#diseaseC0339573","span":{"begin":1250,"end":1254},"obj":"diseaseC0339573"}],"relations":[{"id":"123#127#geners74315337110#114#diseaseC0339573","pred":"associated_with","subj":"23029558-4#123#127#geners74315337","obj":"23029558-4#110#114#diseaseC0339573"},{"id":"5#10#geners7431532969#77#diseaseC0017601","pred":"associated_with","subj":"23029558-6#5#10#geners74315329","obj":"23029558-6#69#77#diseaseC0017601"},{"id":"15#20#geners13785327769#77#diseaseC0017601","pred":"associated_with","subj":"23029558-6#15#20#geners137853277","obj":"23029558-6#69#77#diseaseC0017601"},{"id":"206#211#geners13785327773#77#diseaseC0339573","pred":"associated_with","subj":"23029558-9#206#211#geners137853277","obj":"23029558-9#73#77#diseaseC0339573"},{"id":"182#187#geners7431532973#77#diseaseC0339573","pred":"associated_with","subj":"23029558-9#182#187#geners74315329","obj":"23029558-9#73#77#diseaseC0339573"}],"attributes":[{"subj":"23029558-4#123#127#geners74315337","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"23029558-4#110#114#diseaseC0339573","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"23029558-6#5#10#geners74315329","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"23029558-6#15#20#geners137853277","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"23029558-6#69#77#diseaseC0017601","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"23029558-9#206#211#geners137853277","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"23029558-9#182#187#geners74315329","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"23029558-9#73#77#diseaseC0339573","pred":"source","obj":"DisGeNET5_variant_disease"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"23029558-0#0#8#gene4653","span":{"begin":0,"end":8},"obj":"gene4653"},{"id":"23029558-0#27#54#diseaseC0339573","span":{"begin":27,"end":54},"obj":"diseaseC0339573"}],"relations":[{"id":"0#8#gene465327#54#diseaseC0339573","pred":"associated_with","subj":"23029558-0#0#8#gene4653","obj":"23029558-0#27#54#diseaseC0339573"}],"attributes":[{"subj":"23029558-0#0#8#gene4653","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"23029558-0#27#54#diseaseC0339573","pred":"source","obj":"DisGeNET5_gene_disease"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"Allie","color":"#ec93b1","default":true},{"id":"PubmedHPO","color":"#93cbec"},{"id":"DisGeNET5_variant_disease","color":"#e5ec93"},{"id":"DisGeNET5_gene_disease","color":"#d993ec"}]}]}}